ZWILCH zwilch kinetochore protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZWILCHprovided by HGNC
Official Full Name: zwilch kinetochore proteinprovided by HGNC
Primary source: HGNC:HGNC:25468
See related: Ensembl:ENSG00000174442 MIM:609984; AllianceGenome:HGNC:25468
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KNTC1AP; hZwilch
Summary: Involved in mitotic spindle assembly checkpoint signaling and protein localization to kinetochore. Located in kinetochore. Part of RZZ complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 32.5), lymph node (RPKM 6.0) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.31

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (66505326..66550130)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (64326800..64371623)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (66797664..66842468)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Other name: HZwilch. Homologue of Drosophila Zwilch (CG18729). Localizes to the kinetochore during prometaphase and metaphase of HeLa cells. Complexed with human ROD and human ZW10, similar to situation in Drosophila.
Title: Zwilch, a new component of the ZW10/ROD complex required for kinetochore functions.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-04-24) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-04-24) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in mitotic spindle assembly checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to kinetochore	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of attachment of spindle microtubules to kinetochore	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of RZZ complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RZZ complex	IDA Inferred from Direct Assay more info	PubMed
part_of RZZ complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore microtubule	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: protein zwilch homolog

Names: Zwilch, kinetochore associated, homolog; homolog of Drosophila Zwilch

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001287821.2 → NP_001274750.1 protein zwilch homolog isoform 2

See identical proteins and their annotated locations for NP_001274750.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, compared to variant 1. This difference results in predicted translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 encode the same protein.

Source sequence(s)

AC116913, BQ775697, BX640701

Consensus CDS

CCDS73746.1

UniProtKB/TrEMBL

A8K4T3

Related

ENSP00000402217.2, ENST00000446801.6

Conserved Domains (1) summary

pfam09817
Location:1 → 459

DUF2352; Uncharacterized conserved protein (DUF2352)
NM_001287822.2 → NP_001274751.1 protein zwilch homolog isoform 2

See identical proteins and their annotated locations for NP_001274751.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site at an internal exon and lacks an exon, compared to variant 1. These differences result in predicted translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 encode the same protein.

Source sequence(s)

AC116913, AK122787, BC036900, BQ775697

Consensus CDS

CCDS73746.1

UniProtKB/TrEMBL

A8K4T3

Related

ENSP00000477955.1, ENST00000613446.4

Conserved Domains (1) summary

pfam09817
Location:1 → 459

DUF2352; Uncharacterized conserved protein (DUF2352)
NM_001287823.2 → NP_001274752.1 protein zwilch homolog isoform 2

See identical proteins and their annotated locations for NP_001274752.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This difference results in predicted translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 encode the same protein.

Source sequence(s)

AC116913, AK291048, BC036900, BQ775697

Consensus CDS

CCDS73746.1

UniProtKB/TrEMBL

A8K4T3

Related

ENSP00000437749.2, ENST00000535141.6

Conserved Domains (1) summary

pfam09817
Location:1 → 459

DUF2352; Uncharacterized conserved protein (DUF2352)
NM_017975.5 → NP_060445.3 protein zwilch homolog isoform 1

See identical proteins and their annotated locations for NP_060445.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC116913, BC036900, BQ775697

Consensus CDS

CCDS10219.1

UniProtKB/Swiss-Prot

B3KVB8, Q6N049, Q8N404, Q96SY7, Q9H900, Q9NWG7

UniProtKB/TrEMBL

A8K4T3

Related

ENSP00000311429.5, ENST00000307897.10

Conserved Domains (1) summary

pfam09817
Location:31 → 584

DUF2352; Uncharacterized conserved protein (DUF2352)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

66505326..66550130

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_001751344.3 RNA Sequence
XR_007064470.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

64326800..64371623

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_008488982.1 RNA Sequence
XR_008488983.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_003105.1: Suppressed sequence

Description

NR_003105.1: This RefSeq was permanently suppressed because it is now thought that this transcript does encode a protein.